Introducing the Case Study

The following videos, provided by Manchester Centre for Genomic Medicine, will allow you to explore the diagnostic odyssey for a case study on Congenital Cataracts (CC). You will be able to see the both clinician’s and bioinformatician’s perspective of the case and their role in the whole process.

Structure of the Case Study

This case study is structured in three main steps as detailed below:

Section

What is included

1 Clinical Investigations

Professor Graeme Black will introduce the patient history and family background as well as give an overview of the investigations that took place

2. Genetic Testing

Sanjeev Bhaskar lead bioinformatician at Manchester Centre for Genomic Medicine will give an overview of the steps that took place to decide the right diagnosis using genomic testing

3. Management & Impact

Professor Graeme Black completes the case study with an overview of the management of the case